ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.546_548delinsTA (p.Ser183fs)

dbSNP: rs1060502302
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000470635 SCV000549125 pathogenic Danon disease 2018-11-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in LAMP2 are known to be pathogenic (PMID: 21415759). This sequence change deletes 3 nucleotides and inserts 2 from exon 4 of the LAMP2 mRNA (c.546_548delinsTA), causing a frameshift at codon 183 This creates a premature translational stop signal (p.Ser183Thrfs*59) and is expected to result in an absent or disrupted protein product.

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